The inositol 1,4,5-triphosphate receptor type 1 (ITPR1) gene on chromosome 3 belongs to a family of genes encoding intracellular calcium channel proteins. Such channels are located primarily within the endoplasmic reticular membrane and release Ca(2+), an intracellular messenger, which governs numerous intracellular and extracellular functions. We report a family with infantile-onset cerebellar ataxia with delayed motor development and intellectual disability caused by a heterozygous c.805C>T, p.Arg269Trp missense mutation in ITPR1...

Interstitial and terminal 6q25 deletions are associated with developmental delays, hypotonia, eye pathologies, craniofacial dysmorphologies, and structural brain anomalies. In most cases, speech and language deficits are not described in detail. We report on a case (Patient 1, age 7 years) with a de novo 6q25.3-qter deletion, 11.1 Mb long and encompassing 108 genes, and a case (Patient 2, age 5 years) with an inherited interstitial 6q25.3 deletion, located within Patient 1's deletion region and 403 kb long, the smallest 6q25 deletion reported to date...

BACKGROUND: The speech intelligibility of children with dysarthria and cerebral palsy has been observed to increase following therapy focusing on respiration and phonation. AIMS: To determine if speech intelligibility change following intervention is associated with change in acoustic measures of voice. METHODS & PROCEDURES: We recorded 16 young people with cerebral palsy and dysarthria (nine girls; mean age 14 years, SD = 2; nine spastic type, two dyskinetic, four mixed; one Worster-Drought) producing speech in two conditions (single words, connected speech) twice before and twice after therapy focusing on respiration, phonation and rate...

Purpose: This study aimed to improve understanding of speech characteristics associated with dysarthria in children with cerebral palsy by analyzing segmental and global formant measures in single-word and sentence contexts. Method: Ten 5-year-old children with cerebral palsy and dysarthria and 10 age-matched, typically developing children participated in this study. Vowel space area and second formant interquartile range were measured from children's elicited productions of single words and sentences...

Purpose: Reductions in articulatory working space and vocal intensity have been linked to intelligibility deficits in children with dysarthria due to cerebral palsy. However, few studies have examined the outcomes of behavioral treatments aimed at these underlying impairments or investigated which treatment cues might best facilitate improved intelligibility. This study assessed the effects of cues targeting clear speech (i.e., "Speak with your big mouth") and greater vocal intensity (i...

Botulinum toxin A (Btx-A) injections are used to treat limb spasticity in children with cerebral palsy (CP) resulting in improved gross and fine motor control. This treatment has also been reported to have additional functional effects, but the effect of treatment on speech has not been reported. This report presents results of longitudinal speech evaluation of two children with CP given injections of Btx-A for treatment of limb spasticity. Speech evaluations were accomplished at baseline (date of injections) and 4- and 10-weeks post-injections...

Dystonic storm is a frightening hyperkinetic movement disorder emergency. Marked, rapid exacerbation of dystonia requires prompt intervention and admission to the intensive care unit. Clinical features of dystonic storm include fever, tachycardia, tachypnea, hypertension, sweating and autonomic instability, often progressing to bulbar dysfunction with dysarthria, dysphagia and respiratory failure. It is critical to recognize early and differentiate dystonic storm from other hyperkinetic movement disorder emergencies...

Graves disease is rarely complicated with cerebrovascular steno-occlusive diseases. Previous studies have suggested several hypotheses for this occurrence, including excess thyroid hormone, which stimulates the sympathetic nervous system, which in turn causes an abnormal hemodynamic response with consequent atherosclerotic changes, and antithyroid antibodies cause local vascular inflammation in patients with Graves disease. However, radiological findings of vasculitis in patients with Graves disease and cerebral infarction remain less known...

Although tongue twisters have been widely use to study speech production in healthy speakers, few studies have employed this methodology for individuals with speech impairment. The present study compared tongue twister errors produced by adults with dysarthria and age-matched healthy controls. Eight speakers (four female, four male; mean age = 54.5 years) with spastic (mixed-spastic) dysarthria of varying aetiology (cerebral palsy, multiple sclerosis, multiple system atrophy) and eight controls (four female, four male; mean age = 56...

History A 13-year-old girl presented for evaluation and further management of spastic diplegia cerebral palsy. Absence of the corpus callosum was noted at screening prenatal head ultrasonography. She was born at full term via spontaneous vaginal delivery. Physical examination revealed decreased axial muscle tone and increased muscle tone in her extremities; the latter was more severe. She was nonambulatory. No midline craniofacial anomaly was seen. She had dysarthria but was able to speak in full sentences...

PURPOSE: This paper examined the production of intonation patterns in children with developmental dysarthria associated with cerebral palsy (CP) prior to and after speech intervention focussing on respiration and phonation. The study further sought to establish whether intonation performance might be related to changes in speech intelligibility. METHOD: Intonation patterns were examined using connected speech samples of 15 older children with moderate to severe developmental dysarthria due to CP (9 females; age range: 11-18)...

PURPOSE: The aim of the present study was to validate and extend the evaluation of treatment outcomes following LSVT LOUD® in children with dysarthria secondary to cerebral palsy (CP). METHOD: Seven children (5 females, 6-10 years) with spastic quadriplegia and dysarthria received LSVT LOUD. Outcomes included: (a) quantitative and qualitative indices of communication and social functioning representing therapeutic effects and (b) features of the acoustic signal representing physiological effects on the speech mechanism...

Bilateral paramedian thalamic infarction is a rare subtype of stroke caused by occlusion of the artery of Percheron, an uncommon variant originating from one of the posterior cerebral arteries. This type of stroke has several major clinical presentations: altered mental status, behavioral amnestic impairment, aphasia or dysarthria, ocular movement disorders, motor deficits, cerebellar signs, and others. Few cases of bilateral paramedian thalamic infarction-related pseudobulbar palsy characterized by dysarthria, dysphagia, and facial and tongue weakness have been reported...

PURPOSE: Although dysarthria affects the large majority of individuals with cerebral palsy (CP) and can substantially complicate everyday communication, previous research has provided an incomplete picture of its clinical features. We aimed to comprehensively describe characteristics of dysarthria in adults with CP and to elucidate the impact of dysarthric symptoms on parameters relevant for communication. METHOD: Forty-two adults with CP underwent speech assessment by means of standardized auditory rating scales...

A 78-year-old Caucasian man was admitted in the Department of Neurology for visual disturbances, started two days before. The next day the patient experienced headache, fever and gait disturbances. He had hypertension, diabetes mellitus, an ischemic stroke 13 years ago, longstanding seronegative rheumatoid arthritis (17 years), polynodular goiter, right ischio-pubian fracture and right femoral vein thrombosis a year ago due to a car accident, since he is treated with oral anticoagulants associated to antiaggregant, hypotensors, statin and oral antidiabetics...

A 18-year-old male, screen printer by profession developed sensory motor polyneuropathy, change in his behavior, bilateral 6(th) and 7(th) cranial nerve palsies, down beat nystagmus and cerebellar dysarthria. He had bilaterally prolonged P100 latency; left: 137 ms; right: 144 ms. P 37 was not recordable on either side while N 20 was normal. The inter latency difference between Ipsilateral R2 and Contralateral R2 was 6.15 ms, on the left side and normal on the right side. In the follow-up, there was normalization of the blink reflex study, improvement in P100 latency [left: 114 ms; right: 120 ms...

Exaggerated and redundant prosodic cue use has been noted among adults with dysarthria secondary to cerebral palsy (CP) (Patel, 2004; van Doorn & Sheard, 2001). A possible explanation may be that speakers heighten prosodic contrasts to increase intelligibility. The current work examined whether children with dysarthria due to CP also produce exaggerated prosodic contours and if so, how prosodic cue use in these speakers impacts intelligibility. Acoustic analyses were conducted on a previously collected dataset of 2-7 word utterances produced by fourteen children with CP (7 with dysarthria and 7 without) (Hustad, Gorton & Lee, 2010)...